Canonical Allele Identifier: CA16619340
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 420424
ClinVar RCV Id: RCV000479717
dbSNP Id: rs1064794471
MyVariant Identifiers: chr11:g.47362777del (hg19) chr11:g.47341226del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47341227del , CM000673.2:g.47341227del GRCh38
NC_000011.9:g.47362778del , CM000673.1:g.47362778del GRCh37
NC_000011.8:g.47319354del NCBI36
NG_007667.1:g.16477del , LRG_386:g.16477del

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1809del MANE Select ENSP00000442795.1:p.Ile603MetfsTer?
ENST00000256993.8:c.1809del ENSP00000256993.5:p.Ile603MetfsTer?
ENST00000399249.6:c.1809del ENSP00000382193.2:p.Ile603MetfsTer?
ENST00000544791.1:c.1809del ENSP00000444259.1:p.Ile603MetfsTer?
ENST00000545968.5:c.1809del ENSP00000442795.1:p.Ile603MetfsTer?
NM_000256.3:c.1809del , LRG_386t1:c.1809del MANE Select NP_000247.2:p.Ile603MetfsTer?
XM_011520117.1:c.1791del XP_011518419.1:p.Ile597MetfsTer?
XM_011520118.1:c.1809del XP_011518420.1:p.Ile603MetfsTer?
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